Abstract

Background

There are more than 50 genes for autosomal dominant and autosomal recessive nonsyndromic
hereditary deafness that are yet to be cloned. The human genome sequence and expression
profiles of transcripts in the inner ear have aided positional cloning approaches.
The knowledge of protein interactions offers additional advantages in selecting candidate
genes within a mapped region.

Results

We have employed a bioinformatic approach to assemble the genes encoded by genomic
regions that harbor various deafness loci. The genes were then in silico analyzed for their candidacy by expression pattern and ability to interact with other
proteins. Such analyses have narrowed a list of 2400 genes from suspected regions
of the genome to a manageable number of about 140 for further analysis.

Conclusion

We have established a list of strong candidate genes encoded by the regions linked
to various nonsyndromic hereditary hearing loss phenotypes by using a novel bioinformatic
approach. The candidates presented here provide a starting point for mutational analysis
in well-characterized families along with genetic linkage to refine the loci. The
advantages and shortcomings of this bioinformatic approach are discussed.